HDR syndrome: Large cohort and systematic review.
Rive Le Gouard N, Lafond-Rive V, Jonard L, Loundon N, Achard S, Heidet L, Mosnier I, Lyonnet S, Brioude F, Serey Gaut M, Marlin S.
Rive Le Gouard N, et al.
Clin Genet. 2024 Nov;106(5):564-573. doi: 10.1111/cge.14583. Epub 2024 Jun 28.
Clin Genet. 2024.
PMID: 38940299
HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. ...By modeling pathogenic GATA3 variants found in HDR syndrome, we found that missense variations appear to always be located in the same area (close to the two Zinc F …
HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. ...By modeling pathogenic GATA3 va …